I24V (p.Ile24Val) variant of DSC2 (Desmocollin-2)
I24V (p.Ile24Val) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Cardiom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- rs1228372400
- ClinGen CA402115190
- ClinVar RCV001805399
- ClinVar RCV002541430
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Cardiom
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.03
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.03
- CADD 8.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)